LymphedemaV1, Main, Exploration, bibRecord, 002984

Inherited bone marrow failure syndromes in adolescents and young adults

Identifieur interne : 002984 ( Main/Exploration ); précédent : 002983; suivant : 002985

Inherited bone marrow failure syndromes in adolescents and young adults

Auteurs : David B. Wilson [États-Unis] ; Daniel C. Link [États-Unis] ; Philip J. Mason [États-Unis] ; Monica Bessler [États-Unis]

Source :

Annals of medicine [ 0785-3890 ] ; 2014.

RBID : PMC:4426964

Abstract

The inherited bone marrow failure syndromes are a diverse group of genetic diseases associated with inadequate production of one or more blood cell lineages. Examples include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, thrombocytopenia absent radii syndrome, severe congenital neutropenia, and Shwachman-Diamond syndrome. The management of these disorders was once the exclusive domain of pediatric subspecialists, but increasingly physicians who care for adults are being called upon to diagnose or treat these conditions. Through a series of patient vignettes, we highlight the clinical manifestations of inherited bone marrow failure syndromes in adolescents and young adults. The diagnostic and therapeutic challenges posed by these diseases are discussed.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4426964

DOI: 10.3109/07853890.2014.915579
PubMed: 24888387
PubMed Central: 4426964

Affiliations:

Le document en format XML

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<front><div type="abstract" xml:lang="en"><p id="P1">The inherited bone marrow failure syndromes are a diverse group of genetic diseases associated with inadequate production of one or more blood cell lineages. Examples include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, thrombocytopenia absent radii syndrome, severe congenital neutropenia, and Shwachman-Diamond syndrome. The management of these disorders was once the exclusive domain of pediatric subspecialists, but increasingly physicians who care for adults are being called upon to diagnose or treat these conditions. Through a series of patient vignettes, we highlight the clinical manifestations of inherited bone marrow failure syndromes in adolescents and young adults. The diagnostic and therapeutic challenges posed by these diseases are discussed.</p>
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Inherited bone marrow failure syndromes in adolescents and young adults

Inherited bone marrow failure syndromes in adolescents and young adults

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Abstract

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